Novel SCN1A and GABRA1 Gene Mutations With Diverse Phenotypic Features and the Question on the Existence of a Broader Spectrum of Dravet Syndrome

In the light of modern molecular technologies, the understanding of the complexity of the numerous genotype–phenotype correlations regarding Dravet syndrome is mandatory. Motivated by 2 patients, whose whole-exome sequencing revealed novel mutations that exemplify the phenotypic and genetic heteroge...

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Detalles Bibliográficos
Autores principales: Gontika, Maria P., Konialis, Christopher, Pangalos, Constantine, Papavasiliou, Antigone
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2017
Materias:
Other
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5431609/
https://www.ncbi.nlm.nih.gov/pubmed/28540321
http://dx.doi.org/10.1177/2329048X17706794

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5431609/
https://www.ncbi.nlm.nih.gov/pubmed/28540321
http://dx.doi.org/10.1177/2329048X17706794

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